New LGMD2A/R1 Mice: Novel tools for drug development

Coalition to Cure Calpain 3 (C3) is excited to announce the generation of four mouse models of limb-girdle muscular dystrophy type 2A (LGMD2A/R1). These mouse models were developed and characterized as part of a research grant from C3 to Dr. Cat Lutz at The Jackson Laboratory Rare and Orphan Disease Center. Dr. Lutz has previously developed mouse models for a number of rare diseases, including KIF1A Associated Neurological Disorder, Synder-Robinson Syndrome, and CMT4J, a variant of Charcot-Marie-Tooth Disease, and spinal muscular atrophy. Animal models of disease are key to the testing of therapeutic strategies for genetic diseases.

C3 is hopeful that these mice will serve as a tool to help the research community better understand LGMD2A/R1 and how to treat it.

All four lines are null for Calpain 3. Three were generated using widely used inbred strains: 129/Sv, DBA2/J, and FVB/NJ. The fourth created a knock out in a strain from the Jackson Labs Collaborative Cross project, CC041/UncJ. The different strains were compared for in vivo phenotype severity, serum creatine kinase levels, and post-mortem muscle histology.

All strains are cryopreserved at the Jackson Labs repository. Additionally, the 129/Sv-Capn3 line, which was identified as the most clinically-relevant strain, is available live. Researchers interested in viewing the study report, including phenotypic data, should contact Dr. Jennifer Levy at Jennifer@curecalpain3.org